ClinVar Miner

List of variants in gene LCA5 studied for Leber congenital amaurosis

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Total variants: 8
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NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.*35del rs747368961
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) rs765473119
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428

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